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Entry version 125 (18 Sep 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Putative Polycomb group protein ASXL2

Gene

ASXL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri1397 – 1434PHD-type; atypicalAdd BLAST38

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5689603 UCH proteinases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Putative Polycomb group protein ASXL2
Alternative name(s):
Additional sex combs-like protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ASXL2
Synonyms:ASXH2, KIAA1685
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23805 ASXL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612991 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q76L83

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Shashi-Pena syndrome (SHAPNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by delayed psychomotor development, intellectual disability of variable severity, macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, and hypotonia. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures.
Related information in OMIM
A chromosomal aberration involving ASXL2 is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with KAT6A generates a KAT6A-ASXL2 fusion protein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei20 – 21Breakpoint for translocation to form KAT6A-ASXL2 protein2

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55252

MalaCards human disease database

More...
MalaCardsi
ASXL2
MIMi617190 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000143970

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134884863

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASXL2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74712929

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003138261 – 1435Putative Polycomb group protein ASXL2Add BLAST1435

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei146PhosphoserineCombined sources1
Modified residuei524PhosphoserineCombined sources1
Modified residuei562PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1
Modified residuei600PhosphoserineCombined sources1
Modified residuei637PhosphoserineCombined sources1
Modified residuei641Asymmetric dimethylarginineBy similarity1
Modified residuei648PhosphoserineCombined sources1
Modified residuei1319PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q76L83

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q76L83

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q76L83

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q76L83

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q76L83

PeptideAtlas

More...
PeptideAtlasi
Q76L83

PRoteomics IDEntifications database

More...
PRIDEi
Q76L83

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68680 [Q76L83-1]
68681 [Q76L83-2]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q76L83

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q76L83

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q76L83

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000143970 Expressed in 238 organ(s), highest expression level in colon

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q76L83 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q76L83 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA034646
HPA058040

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PPARA and PPARG.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
MBD6Q96DN63EBI-12043951,EBI-719591

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120543, 23 interactors

Protein interaction database and analysis system

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IntActi
Q76L83, 13 interactors

Molecular INTeraction database

More...
MINTi
Q76L83

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000383920

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q76L83

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini11 – 82HARE-HTHSequence analysisAdd BLAST72

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi174 – 178Nuclear localization signalSequence analysis5
Motifi303 – 307LXXLL motif 15
Motifi887 – 891LXXLL motif 25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi95 – 235Ser-richAdd BLAST141
Compositional biasi303 – 307Poly-Leu5
Compositional biasi654 – 684Ala-richAdd BLAST31
Compositional biasi687 – 739Gly-richAdd BLAST53
Compositional biasi1173 – 1176Poly-Ser4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs, which may be required for an association with nuclear receptors.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Asx family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1397 – 1434PHD-type; atypicalAdd BLAST38

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IIF3 Eukaryota
ENOG4111F3G LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00520000055578

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q76L83

KEGG Orthology (KO)

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KOi
K11471

Identification of Orthologs from Complete Genome Data

More...
OMAi
SIDTHQY

Database of Orthologous Groups

More...
OrthoDBi
123355at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q76L83

TreeFam database of animal gene trees

More...
TreeFami
TF328464

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026905 ASX-like_PHD
IPR024811 ASX/ASX-like
IPR028020 ASXH
IPR024817 ASXL2
IPR007759 HB1/Asxl_HTH

The PANTHER Classification System

More...
PANTHERi
PTHR13578 PTHR13578, 1 hit
PTHR13578:SF11 PTHR13578:SF11, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13919 ASXH, 1 hit
PF05066 HARE-HTH, 1 hit
PF13922 PHD_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q76L83-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MREKGRRKKG RTWAEAAKTV LEKYPNTPMS HKEILQVIQR EGLKEIRSGT
60 70 80 90 100
SPLACLNAML HTNSRGEEGI FYKVPGRMGV YTLKKDVPDG VKELSEGSEE
110 120 130 140 150
SSDGQSDSQS SENSSSSSDG GSNKEGKKSR WKRKVSSSSP QSGCPSPTIP
160 170 180 190 200
AGKVISPSQK HSKKALKQAL KQQQQKKQQQ QCRPSISISS NQHLSLKTVK
210 220 230 240 250
AASDSVPAKP ATWEGKQSDG QTGSPQNSNS SFSSSVKVEN TLLGLGKKSF
260 270 280 290 300
QRSERLHTRQ MKRTKCADID VETPDSILVN TNLRALINKH TFSVLPGDCQ
310 320 330 340 350
QRLLLLLPEV DRQVGPDGLM KLNGSALNNE FFTSAAQGWK ERLSEGEFTP
360 370 380 390 400
EMQVRIRQEI EKEKKVEPWK EQFFESYYGQ SSGLSLEDSK KLTASPSDPK
410 420 430 440 450
VKKTPAEQPK SMPVSEASLI RIVPVVSQSE CKEEALQMSS PGRKEECESQ
460 470 480 490 500
GEVQPNFSTS SEPLLSSALN THELSSILPI KCPKDEDLLE QKPVTSAEQE
510 520 530 540 550
SEKNHLTTAS NYNKSESQES LVTSPSKPKS PGVEKPIVKP TAGAGPQETN
560 570 580 590 600
MKEPLATLVD QSPESLKRKS SLTQEEAPVS WEKRPRVTEN RQHQQPFQVS
610 620 630 640 650
PQPFLNRGDR IQVRKVPPLK IPVSRISPMP FHPSQVSPRA RFPVSITSPN
660 670 680 690 700
RTGARTLADI KAKAQLVKAQ RAAAAAAAAA AAAASVGGTI PGPGPGGGQG
710 720 730 740 750
PGEGGEGQTA RGGSPGSDRV SETGKGPTLE LAGTGSRGGT RELLPCGPET
760 770 780 790 800
QPQSETKTTP SQAQPHSVSG AQLQQTPPVP PTPAVSGACT SVPSPAHIEK
810 820 830 840 850
LDNEKLNPTR ATATVASVSH PQGPSSCRQE KAPSPTGPAL ISGASPVHCA
860 870 880 890 900
ADGTVELKAG PSKNIPNPSA SSKTDASVPV AVTPSPLTSL LTTATLEKLP
910 920 930 940 950
VPQVSATTAP AGSAPPSSTL PAASSLKTPG TSLNMNGPTL RPTSSIPANN
960 970 980 990 1000
PLVTQLLQGK DVPMEQILPK PLTKVEMKTV PLTAKEERGM GALIATNTTE
1010 1020 1030 1040 1050
NSTREEVNER QSHPATQQQL GKTLQSKQLP QVPRPLQLFS AKELRDSSID
1060 1070 1080 1090 1100
THQYHEGLSK ATQDQILQTL IQRVRRQNLL SVVPPSQFNF AHSGFQLEDI
1110 1120 1130 1140 1150
STSQRFMLGF AGRRTSKPAM AGHYLLNIST YGRGSESFRR THSVNPEDRF
1160 1170 1180 1190 1200
CLSSPTEALK MGYTDCKNAT GESSSSKEDD TDEESTGDEQ ESVTVKEEPQ
1210 1220 1230 1240 1250
VSQSAGKGDT SSGPHSRETL STSDCLASKN VKAEIPLNEQ TTLSKENYLF
1260 1270 1280 1290 1300
TRGQTFDEKT LARDLIQAAQ KQMAHAVRGK AIRSSPELFS STVLPLPADS
1310 1320 1330 1340 1350
PTHQPLLLPP LQTPKLYGSP TQIGPSYRGM INVSTSSDMD HNSAVPGSQV
1360 1370 1380 1390 1400
SSNVGDVMSF SVTVTTIPAS QAMNPSSHGQ TIPVQAFSEE NSIEGTPSKC
1410 1420 1430
YCRLKAMIMC KGCGAFCHDD CIGPSKLCVS CLVVR
Length:1,435
Mass (Da):153,820
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA01026E3C2D1035D
GO
Isoform 2 (identifier: Q76L83-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-260: Missing.
     838-1094: Missing.

Note: No experimental confirmation available.
Show »
Length:918
Mass (Da):98,359
Checksum:iB923F0E5C7B5FEC6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EWD6E7EWD6_HUMAN
Putative Polycomb group protein ASX...
ASXL2
1,407Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91889 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB21776 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAD00088 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti473E → G in CAI45930 (Ref. 3) Curated1
Sequence conflicti651R → K in CAI45930 (Ref. 3) Curated1
Sequence conflicti1334S → P in BAA91889 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_037773731L → P. Corresponds to variant dbSNP:rs13385963Ensembl.1
Natural variantiVAR_037774796A → V1 PublicationCorresponds to variant dbSNP:rs17854251Ensembl.1
Natural variantiVAR_0377751210T → P. Corresponds to variant dbSNP:rs12991178Ensembl.1
Natural variantiVAR_0377761242T → P. Corresponds to variant dbSNP:rs12990978Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0301631 – 260Missing in isoform 2. 1 PublicationAdd BLAST260
Alternative sequenceiVSP_030164838 – 1094Missing in isoform 2. 1 PublicationAdd BLAST257

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB084279 mRNA Translation: BAD00086.1
AB084281 mRNA Translation: BAD00088.1 Different initiation.
AB051472 mRNA Translation: BAB21776.2 Different initiation.
CR933613 mRNA Translation: CAI45930.1
AC010150 Genomic DNA Translation: AAY14841.1
BC042999 mRNA Translation: AAH42999.1
AK001760 mRNA Translation: BAA91889.1 Different initiation.

NCBI Reference Sequences

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RefSeqi
NP_060733.4, NM_018263.4 [Q76L83-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000404843; ENSP00000383920; ENSG00000143970 [Q76L83-2]
ENST00000435504; ENSP00000391447; ENSG00000143970 [Q76L83-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55252

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55252

UCSC genome browser

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UCSCi
uc002rgt.2 human [Q76L83-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB084279 mRNA Translation: BAD00086.1
AB084281 mRNA Translation: BAD00088.1 Different initiation.
AB051472 mRNA Translation: BAB21776.2 Different initiation.
CR933613 mRNA Translation: CAI45930.1
AC010150 Genomic DNA Translation: AAY14841.1
BC042999 mRNA Translation: AAH42999.1
AK001760 mRNA Translation: BAA91889.1 Different initiation.
RefSeqiNP_060733.4, NM_018263.4 [Q76L83-1]

3D structure databases

SMRiQ76L83
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120543, 23 interactors
IntActiQ76L83, 13 interactors
MINTiQ76L83
STRINGi9606.ENSP00000383920

PTM databases

CarbonylDBiQ76L83
iPTMnetiQ76L83
PhosphoSitePlusiQ76L83

Polymorphism and mutation databases

BioMutaiASXL2
DMDMi74712929

Proteomic databases

EPDiQ76L83
jPOSTiQ76L83
MassIVEiQ76L83
MaxQBiQ76L83
PaxDbiQ76L83
PeptideAtlasiQ76L83
PRIDEiQ76L83
ProteomicsDBi68680 [Q76L83-1]
68681 [Q76L83-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55252
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000404843; ENSP00000383920; ENSG00000143970 [Q76L83-2]
ENST00000435504; ENSP00000391447; ENSG00000143970 [Q76L83-1]
GeneIDi55252
KEGGihsa:55252
UCSCiuc002rgt.2 human [Q76L83-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55252
DisGeNETi55252

GeneCards: human genes, protein and diseases

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GeneCardsi
ASXL2
HGNCiHGNC:23805 ASXL2
HPAiHPA034646
HPA058040
MalaCardsiASXL2
MIMi612991 gene
617190 phenotype
neXtProtiNX_Q76L83
OpenTargetsiENSG00000143970
PharmGKBiPA134884863

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIF3 Eukaryota
ENOG4111F3G LUCA
GeneTreeiENSGT00520000055578
InParanoidiQ76L83
KOiK11471
OMAiSIDTHQY
OrthoDBi123355at2759
PhylomeDBiQ76L83
TreeFamiTF328464

Enzyme and pathway databases

ReactomeiR-HSA-5689603 UCH proteinases

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ASXL2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
55252

Pharos

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Pharosi
Q76L83

Protein Ontology

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PROi
PR:Q76L83

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143970 Expressed in 238 organ(s), highest expression level in colon
ExpressionAtlasiQ76L83 baseline and differential
GenevisibleiQ76L83 HS

Family and domain databases

InterProiView protein in InterPro
IPR026905 ASX-like_PHD
IPR024811 ASX/ASX-like
IPR028020 ASXH
IPR024817 ASXL2
IPR007759 HB1/Asxl_HTH
PANTHERiPTHR13578 PTHR13578, 1 hit
PTHR13578:SF11 PTHR13578:SF11, 1 hit
PfamiView protein in Pfam
PF13919 ASXH, 1 hit
PF05066 HARE-HTH, 1 hit
PF13922 PHD_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiASXL2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q76L83
Secondary accession number(s): Q53TC9
, Q5H9U4, Q76L81, Q86XM1, Q9C0H8, Q9NV67
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: July 5, 2004
Last modified: September 18, 2019
This is version 125 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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